伊拉克35天大的婴儿患有桑贾德-萨卡蒂综合征:一个病例报告

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Majeed H Al Ajeli1

  • 1Department of Pediatrics, Fallujah Teaching Hospital for Women and Children, Fallujah, Iraq.

Oman medical journal
|March 4, 2024
PubMed
概括

桑贾德-萨卡蒂综合征是阿拉伯人口中罕见的遗传疾病,会导致甲状腺功能低下和发育迟缓. 基因分析证实了伊拉克报告的一例TBCE基因突变,强调了早期诊断和遗传咨询的必要性.

关键词:
甲状腺功能下降症 甲状腺功能下降症桑贾德-萨卡蒂综合征 桑贾德-萨卡蒂综合征蛋白折叠辅因子E样蛋白,人类

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